Linked Data
ClinVar Variation Id:
8887
dbSNP Id:
rs104894047
ExAC:
7:155596114 C / T
gnomAD v2:
7-155596114-C-T
gnomAD v3:
7-155803420-C-T
gnomAD v4:
7-155803420-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155803420C>T , CM000669.2:g.155803420C>T | GRCh38 |
| NC_000007.13:g.155596114C>T , CM000669.1:g.155596114C>T | GRCh37 |
| NC_000007.12:g.155288875C>T | NCBI36 |
| NG_007504.2:g.13854G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297261.7:c.869G>A MANE Select | ENSP00000297261.2:p.Gly290Asp | |
| ENST00000297261.6:c.869G>A | ENSP00000297261.2:p.Gly290Asp | |
| ENST00000430104.5:c.301+2876G>A | ENSP00000396621.1:n.301+2876G>A | |
| ENST00000435425.1:c.302-2823G>A | ENSP00000413871.1:n.302-2823G>A | |
| ENST00000441114.5:c.302-2753G>A | ENSP00000410546.1:n.302-2753G>A | |
| NM_000193.2:c.869G>A | NP_000184.1:p.Gly290Asp | |
| NM_000193.3:c.869G>A | NP_000184.1:p.Gly290Asp | |
| NM_001310462.1:c.301+2876G>A | NP_001297391.1:n.301+2876G>A | |
| NR_132318.1:n.472-2753G>A | ||
| NR_132319.1:n.472-2823G>A | ||
| XM_011516479.1:c.608G>A | XP_011514781.1:p.Gly203Asp | |
| XM_011516480.1:c.608G>A | XP_011514782.1:p.Gly203Asp | |
| XM_011516481.1:c.608G>A | XP_011514783.1:p.Gly203Asp | |
| XM_011516482.1:c.530G>A | XP_011514784.1:p.Gly177Asp | |
| XM_011516479.2:c.608G>A | XP_011514781.1:p.Gly203Asp | |
| XM_011516480.2:c.608G>A | XP_011514782.1:p.Gly203Asp | |
| NM_000193.4:c.869G>A MANE Select | NP_000184.1:p.Gly290Asp | |
| NM_001310462.2:c.301+2876G>A | NP_001297391.1:n.301+2876G>A | |
| NR_132318.2:n.563-2753G>A | ||
| NR_132319.2:n.563-2823G>A |